enchondromatosis


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Related to enchondromatosis: chondromyxoid fibroma, Maffucci syndrome

enchondromatosis

[‚en‚kän·drō·mə′tō·səs]
(medicine)
A rare disorder principally involving tubular bones, especially those of the feet and hands, characterized by hamartomatous proliferation of cartilage in the metaphysis, indistinguishable in single lesions from enchondromas. Also known as chondrodysplasia; dyschondroplasia; Ollier's disease.
References in periodicals archive ?
3) The most common type of enchondromatosis is Ollier disease-enchondromas of the long bones sparing the spine and skull-which occurs in 1/100,000 patients.
4) In fact, 10% of patients with enchondromatosis harbor a mutation in the PTH1R receptor; these mutations were shown to decrease the function of the receptor by 30%.
Generalized enchondromatosis is a rare bone dysplasia that is characterized by multiple intraosseous tumors near growth-plate cartilage.
A 15-year-old girl with a history of generalized enchondromatosis presented to her pediatrician with a mass in her left parotid gland.
Hereditary multiple exostoses and enchondromatosis.
Sturge-Weber Syndrome EHCEPHALOMYELOPATHY See: Lactic Acidosis; Mitochondrial Disorders ENCEPHALOMYELORADICULOPATHY, ACUTE ISSEMINATED See: Guillain-Barre Syndrome ENCEPHALOTRIGEMINAL ANGIOMATOSIS See: Sturge-Weber Syndrome ENCHONDROMATOSIS, ENCHONDROSES See: Ollier Disease ENDOCARDIAL FIBROSLASTOSIS See: Heart Disorders ENTEROPATHY, GLUTENSENSITIVE See: Celiac Disease; Celiac Sprue; Gluten Intolerance EOSINOPHILIC GRANULOMA See: Histiocytosis EPICANTHUS INVERSUS See: Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES) EPIDERMOLYSIS BULLOSA, DYSTROPHIC See also: Connective Tissue Disorders DEBRA: Dystrophic Epidermolysis Bullosa Research Association 40 Rector St.